A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519599



Internal ID295948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19857032..19861312hg38UCSC Ensembl
chr17:19760345..19764625hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384281
hg194281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712035
Samples
Known GenesULK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519599
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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